Acid Sphingomyelinase Deficiency
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000309865.9
- Last updated: 2024-10-11
- Test version history
- 309865.9, last updated: 2024-10-11
- 309865.8, last updated: 2019-10-08
- 309865.7, last updated: 2018-10-19
- 309865.6, last updated: 2017-10-20
- 309865.5, last updated: 2016-10-20
- 309865.4, last updated: 2015-10-23
- 309865.3, last updated: 2014-10-31
- 309865.2, last updated: 2013-11-15
- 309865.1, last updated: 2013-11-15
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Sphingomyelin/cholesterol lipidosis
Offered by Dep. of Paediatrics and Inherited Metabolic Disorders
Methodology
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Biochemical Genetics
- EEnzyme assay
- Enzyme activity
- Molecular Genetics
- CSequence analysis of the entire coding region
- Bi-directional Sanger Sequence Analysis
- Applied Biosystems 3500xL capillary sequencing instrument
Test development
HelpHow the test was developed (e.g. Laboratory Developed Test (LDT), FDA reviewed, externally manufactured kit, modified FDA-reviewed test, or combination). Intended to help differentiate certification requirements between the test types. Reflex testing not included here.Not provided
- ACMG ACT, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased acid sphingomyelinase, Acid Sphingomyelinase Deficiency (ASMD), 2022
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, Acid Sphingomyelinase Deficiency (ASMD): Decreased Acid Sphingomyelinase (ASM), 2022
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